Q31R (p.Gln31Arg) variant of RP2 (Protein XRP2)
Q31R (p.Gln31Arg) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q31R (p.Gln31Arg) variant details
- p.Gln31Arg
- gnomAD X-46837192-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.31
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available